Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3321971014 | Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321972019 | Contracture with ectodermal dysplasia and orofacial cleft syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321973012 | Ladda Zonana Ramer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3321974018 | An ectodermal dysplasia syndrome with characteristics of severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3777385013 | An ectodermal dysplasia syndrome with characteristics of severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple naevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Structure of internal part of mouth | false | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 7 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 7 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Contracture | false | Inferred relationship | Some | 9 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 9 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Arthrogryposis | false | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Ectodermal dysplasia with hair-tooth defects | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Orofacial cleft (disorder) | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Congenital abnormality of oral cavity | false | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Structure of subregion of head | true | Inferred relationship | Some | 4 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Structure of internal part of mouth | false | Inferred relationship | Some | 2 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Contracture | false | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 7 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 7 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 2 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Finding site | Bone structure of head | true | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Congenital abnormality of skull and face bones | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 9 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 9 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 10 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 10 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets